| 000 | 01491 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250513215747.0 | ||
| 264 | 0 | _c20010111 | |
| 008 | 200101s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1023/a:1005616315087 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aChambliss, K L | |
| 245 | 0 | 0 |
_aMolecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cJul 2000 |
||
| 300 |
_a497-504 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAldehyde Oxidoreductases _xdeficiency |
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xenzymology |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 |
_aDNA Primers _xgenetics |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMethylmalonate-Semialdehyde Dehydrogenase (Acylating) |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aValine _xmetabolism |
| 700 | 1 | _aGray, R G | |
| 700 | 1 | _aRylance, G | |
| 700 | 1 | _aPollitt, R J | |
| 700 | 1 | _aGibson, K M | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 23 _gno. 5 _gp. 497-504 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1023/a:1005616315087 _zAvailable from publisher's website |
| 999 |
_c10895915 _d10895915 |
||